Problem addressed

In Romania, approximately 1.3 million people are affected by rare diseases but 90% of patients do not receive the correct diagnosis or adequate treatment and medical care. The problem is less pronounced but still present at EU level, where 40% of patients with a rare disease receive an incorrect diagnosis. Although declared in Romania's National Health Strategy in 2014 as a national priority, rare diseases are often not adequately addressed by the national health system due to their small and disconnected patient populations, the lack of knowledge of doctors on rare diseases and the lack of diagnosis centres. This leads to fragmented medical and care services for patients with rare diseases and their families.

Innovative solution

The Pilot Reference Centre for Rare Diseases (NoRo) was launched in June 2011. It is innovative in its holistic and centralised approach to rare disease care, providing a one-stop-shop for people living with a rare disease. Patients at the NoRo have a designated case manager who provides them with guidance and counselling through the different services available to them. Set up by the Romanian Prader Willi Association (RPWA), in partnership with the leading Norwegian Frambu Resource Centre for Rare Disorders and funded by the EEA and Norway Grants, the centre combines medical, social and educational services for patients and their families. The NoRo was also supported through the INNOVCare project which ran until 2018.

The NoRo works to increase awareness of rare diseases in the medical and wider community. It brings together 50 pro-bono doctors that work collaboratively on an information website about rare diseases, a national online map of services and guidelines for patients and professionals. The doctors also respond directly to patients' questions via the helpline or during NoRo workshops. The NoRo has trained almost 500 health specialists and doctors via online and offline courses and works with schools to organise role-playing sessions and debates in order to raise awareness of these diseases amongst teachers and pupils. Part of this work is the Trial for Flight programme aimed at providing young people with rare diseases with the necessary skills to become autonomous and fully integrated in their communities.

The NoRo also runs a registry for rare disease patients in Romania. This allows efficient planning and allocation of resources for the centre and supports the monitoring of the impact of rare diseases and the situation of patients in Romania.

Key results and benefits

The NoRo is unique in Romania and currently offers services to over 10% of patients diagnosed with rare diseases in the country. Over the past 6 years, the centre’s doctors undertook over 2 200 consultations. Today, the centre supports 73 children with daily care and medical services and 12 youths that are involved in the Trial for Flight autonomy programme. Over 900 patients from across the country joined the NoRo’s support groups, summer camps, therapeutic weekends and five-day residential programmes since the registry was launched in 2015.

The work pioneered by the NoRo opened the door to a re-evaluation of how rare diseases are treated in Romania. The role of case management for patients with rare diseases was integrated by the Ministry of Health in the community care framework and the holistic and interdisciplinary approach to rare diseases is increasingly being adopted by doctors and care workers across the country. An accreditation system for centres of expertise was also developed and 27 centres so far have received it. An online platform for case workers is also being developed, which will ease the process of registering patients, tracking their history and connecting them to doctors and therapists.

In the context of the 2009 European Council Recommendation on an action in the field of rare diseases, the NoRo’s president also successfully pushed for a national plan for rare diseases, which was integrated into Romania's National Health Strategy in 2014. The government set up an advisory council for rare diseases and increased the national budget allocated to the treatment of rare diseases by 46% in 2014. This change helped integrate new diseases into the list of recognised rare diseases and gave access to more treatments, thus reaching 25% more people.

Potential for mainstreaming

The NoRo was funded by the European Economic Area (EEA) and Norway grants, the Romanian Ministry of Health and local and regional authorities. The initiative has strong potential for transferability and is already inspiring other countries, both in the region (Serbia, Slovakia, Hungary and Bulgaria) as well as further afield (Croatia, Sweden, Norway, Portugal and Spain). The NoRo is also part of the European Network of Resource Centres for Rare Diseases, which provides a space for mutual learning.

Key conditions for the transferability of this model to other contexts is access to reliable and flexible sources of funding (EU or otherwise), to a strong network of international partners which can support, advise and guide the implementation of the model and to support from local and national authorities.

As most rare diseases involve disabilities, the NoRo approach has high potential to change the care system for all people with disabilities. The RPWA is collaborating with a consortium of European partners, in particular Norway, to further develop this approach.